Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes

This study has been completed.
Baylor College of Medicine
Information provided by:
Office of Rare Diseases (ORD) Identifier:
First received: October 18, 1999
Last updated: June 23, 2005
Last verified: October 2003

OBJECTIVES: I. Investigate phenotype and genotype correlations in patients with Smith-Magenis syndrome (SMS) associated with del(17p11.2).

II. Clinically evaluate SMS patients with unusual deletions or duplication of proximal 17p.

III. Clinically evaluate patients with Williams syndrome with molecular characterization of 7q11.23.

IV. Perform clinical studies of Prader-Willi, Angelman, DiGeorge, and Shprintzen syndrome patients with unique molecular findings in 15q11q13 or 22q11.2.

V. Perform genotype and phenotype correlations in Prader-Willi patients, particularly those with loss of expression of only some of the imprinted transcripts in 15q11-q13.

VI. Evaluate putative Angelman syndrome patients who do not have classic large deletion, uniparental disomy, or imprinting mutations, and perform molecular studies of the Angelman gene, UBE3A, and identify mutations of this gene.

VII. Investigate phenotype and genotype correlations in patients with terminal deletions of chromosome 1p.

Williams Syndrome
Angelman Syndrome
Prader-Willi Syndrome
Shprintzen Syndrome
Smith-Magenis Syndrome
DiGeorge Syndrome
Chromosome Abnormalities

Study Type: Observational
Study Design: Primary Purpose: Screening

Resource links provided by NLM:

Further study details as provided by Office of Rare Diseases (ORD):

Estimated Enrollment: 20
Study Start Date: September 1999
Detailed Description:

PROTOCOL OUTLINE: Patients undergo clinical, cytogenetic, and molecular studies. These include radiographic, neurologic, developmental, and 24 hour sleep studies, ophthalmologic, otolaryngologic, speech and language, and audiologic exams, echocardiogram, and renal ultrasound.

Smith-Magenis patients are also evaluated with the following: urine melatonin levels during day and night hours; anthropometrics; sleep and behavioral history; and renal, immunologic, and cholesterol studies. A clinical and phenotypic map is constructed.

When appropriate, parental chromosome analysis is performed.


Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No


--Disease Characteristics-- Contiguous gene deletion syndrome, e.g.: Smith-Magenis syndrome Williams syndrome DiGeorge syndrome Shprintzen syndrome (velo-cardio-facial syndrome) Prader-Willi syndrome Angelman syndrome Deletion of chromosome 1p Patient age: Any age

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Please refer to this study by its identifier: NCT00004351

United States, Texas
Baylor College of Medicine
Houston, Texas, United States, 77030
Sponsors and Collaborators
National Institute of Neurological Disorders and Stroke (NINDS)
Baylor College of Medicine
Study Chair: James R. Lupski Baylor College of Medicine
  More Information Identifier: NCT00004351     History of Changes
Other Study ID Numbers: 199/11914  BCM-H4299 
Study First Received: October 18, 1999
Last Updated: June 23, 2005
Health Authority: United States: Federal Government

Keywords provided by Office of Rare Diseases (ORD):
Angelman syndrome
DiGeorge syndrome
Prader-Willi syndrome
Shprintzen syndrome
Smith-Magenis syndrome
Williams syndrome
genetic diseases and dysmorphic syndromes
neurologic and psychiatric disorders
rare disease

Additional relevant MeSH terms:
Williams Syndrome
Angelman Syndrome
Chromosome Aberrations
Chromosome Disorders
DiGeorge Syndrome
Prader-Willi Syndrome
Smith-Magenis Syndrome
22q11 Deletion Syndrome
Abnormalities, Multiple
Aortic Stenosis, Supravalvular
Aortic Valve Stenosis
Cardiovascular Abnormalities
Cardiovascular Diseases
Central Nervous System Diseases
Chronobiology Disorders
Congenital Abnormalities
Craniofacial Abnormalities
Endocrine System Diseases
Genetic Diseases, Inborn
Heart Defects, Congenital
Heart Diseases
Heart Valve Diseases
Intellectual Disability
Lymphatic Abnormalities
Lymphatic Diseases
Movement Disorders
Musculoskeletal Abnormalities processed this record on May 24, 2016